Full data view for gene DOK7

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_173660.4 transcript reference sequence.

555 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.-30G>T r.(=) p.(=) Parent #1 - benign g.3465073G>T g.3463346G>T - - DOK7_000109 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.-30G>T r.(?) p.(=) Unknown - benign g.3465073G>T g.3463346G>T - - DOK7_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-6C>G r.(?) p.(=) Unknown - benign g.3465097C>G g.3463370C>G - - DOK7_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.? r.[55_100del, 55_532del, 101_532del] p.fs* Parent #2 - pathogenic g.? - 55_100del - DOK7_000000 increased exon 2 skipping (not observed in 100 controls); no changes in introns 2+3 PubMed: Selcen 2008 - - Germline - - - 0 - RNA RT-PCR, SEQ - - CMS 18626973-Pat10 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - 1 Tom Winder
+/. 4 c.? r.(?) p.? Parent #1 - pathogenic g.? - 414C>T - DOK7_000000 - PubMed: Lashley 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20458068-Pat08 PubMed: Lashley 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. 4 c.? - p.Arg158Ala Unknown - NA g.? - - - DOK7_000000 expression cloning HEK 293T cells, fails to bind MUSK PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.? - p.Arg159Ala Unknown - NA g.? - - - DOK7_000000 expression cloning HEK 293T cells, fails to bind MUSK PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.? - p.Arg174Ala Unknown - NA g.? - - - DOK7_000000 expression cloning HEK 293T cells, fails to bind MUSK PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.? - p.Leu241Ala Unknown - NA g.? - - - DOK7_000000 expression cloning myotubes DOK7 in nculeus PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.? - p.Leu245Ala Unknown - NA g.? - - - DOK7_000000 expression cloning myotubes DOK7 in nucleus/cytoplasm PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 6 c.? - p.Leu248Ala Unknown - NA g.? - - - DOK7_000000 expression cloning myotubes DOK7 in cytoplasm PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.? - p.Tyr395Phe Unknown - NA g.? - - - DOK7_000000 expression cloning significantly reduced MUSK activiation/AChR clustering PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.? - p.Tyr405Phe Unknown - NA g.? - - - DOK7_000000 expression cloning significantly reduced MUSK activiation/AChR clustering PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.? - p.Tyr395Phe Unknown - NA g.? - - - DOK7_000000 expression cloning HEK 293T cells significantly reduced Tyr phoshorylation PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 7 c.? - p.Tyr405Phe Unknown - NA g.? - - - DOK7_000000 expression cloning HEK 293T cells significantly reduced Tyr phoshorylation PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 7 c.? - p.Pro421* Unknown - NA g.? - - - DOK7_000000 expression cloning no effect on MUSK activiation/AChR clustering PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1 c.7G>A r.(?) p.(Glu3Lys) Parent #1 - pathogenic g.3465109G>A g.3463382G>A - - DOK7_000052 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+/. 1 c.7G>A r.(?) p.(Glu3Lys) Parent #1 - pathogenic (recessive) g.3465109G>A g.3463382G>A - - DOK7_000052 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat01 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.7G>A r.(?) p.Glu3Lys Unknown - NA g.3465109G>A g.3463382G>A - - DOK7_000052 expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity PubMed: Cossins 2012 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.32T>C r.(?) p.(Ala11Val) Unknown - VUS g.3465134T>C g.3463407T>C - - DOK7_000032 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - - - Canada - - 0 - - 1 Tom Winder
-?/. 1 c.42G>C r.(?) p.(=) Unknown - likely benign g.3465144G>C g.3463417G>C R14R - DOK7_000075 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pats PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.48C>T r.0? p.0? Parent #1 - pathogenic (recessive) g.3465150C>T g.3463423C>T r.1-119del - DOK7_000058 exon trap cloning exon skipped PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat02 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1 c.48C>T r.0? p.0? Parent #1 - pathogenic (recessive) g.3465150C>T g.3463423C>T r.1-119del - DOK7_000058 exon trap cloning exon skipped PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat03 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+?/. 1i c.54+12_54+23del r.spl p.(=) Unknown - likely pathogenic g.3465168_3465179del g.3463441_3463452del - - DOK7_000140 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CMS10 patient 51 de Natera, 2017 - F no Spain - - 0 - - 2 Ana Topf
+?/. 1i c.54+12_54+23del r.spl p.(=) Unknown - likely pathogenic g.3465168_3465179del g.3463441_3463452del - - DOK7_000140 - - - - Germline yes - - 0 - DNA SEQ-NG, SEQ-NG-H, SEQ-NG-I Blood - CMS10 patient 52 de Natera, 2017 - F no Spain - - 0 - - 2 Ana Topf
+/. 1i c.54+25_55-38del r.[54_55ins54+1_55-1; 54+14_55-38del] p.Trp19Valfs*23 Parent #1 - pathogenic g.3465181_3465195del g.3463454_3463468del 54+14_+28delGGGGGGGGGGGGCGC - DOK7_000014 intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs PubMed: Selcen 2008 - - Germline - - - 0 - RNA RT-PCR, SEQ - - CMS 18626973-Pat02 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - 1 Tom Winder
+/. 1i c.54+25_55-38del r.[54_55ins54+1_55-1; 54+14_55-38del] p.Trp19Valfs*22 Parent #1 - pathogenic g.3465181_3465195del g.3463454_3463468del 54+14_+28delGGGGGGGGGGGGCGC - DOK7_000014 intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs PubMed: Selcen 2008 - - Germline - - - 0 - RNA RT-PCR, SEQ - - CMS 18626973-Pat05 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - 1 Tom Winder
+?/. 1i c.54+25_55-38del r.spl? p.? Parent #1 - likely pathogenic g.3465181_3465195del g.3463454_3463468del 54+22_36del - DOK7_000014 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - - - United States - - 0 - - 1 Tom Winder
+/. 1i c.54+25_55-38del r.spl? p.? Parent #1 - pathogenic g.3465181_3465195del g.3463454_3463468del 54+22_36del - DOK7_000014 - PubMed: Schara 2009 - - Germline - - - 0 - DNA SEQ - - CMS 19837590-Pat5 PubMed: Schara 2009 - F - Croatia (Hrvatska) - - 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55-38del r.54_55ins54+1_55-1{54+14_55-38del} p.Trp19Valfs*23 Parent #2 - pathogenic g.3465181_3465195del g.3463454_3463468del 54+19_54+33delCGCGGGGGGGGGGGG - DOK7_000014 intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs PubMed: BenAmmar 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20012313-Pat03 PubMed: BenAmmar 2010 - M - France - >47y 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55-38del r.spl? p.? Parent #2 - pathogenic g.3465181_3465195del g.3463454_3463468del IVS1+14del15 - DOK7_000014 - PubMed: Lashley 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20458068-Pat01 PubMed: Lashley 2010 relative of 20458068-Pat02 - - - - - 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55-38del r.spl? p.? Parent #2 - pathogenic g.3465181_3465195del g.3463454_3463468del IVS1+14del15 - DOK7_000014 - PubMed: Lashley 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20458068-Pat02 PubMed: Lashley 2010 relative of 20458068-Pat01 - - - - - 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55+38del r.spl? p.? Parent #1 - pathogenic (recessive) g.3465181_3465271del - 54+25_39del15 - DOK7_000059 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat04 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55+38del r.spl? p.? Parent #1 - pathogenic (recessive) g.3465181_3465271del - 54+25_39del15 - DOK7_000059 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat05 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55+38del r.spl? p.? Parent #1 - pathogenic (recessive) g.3465181_3465271del - 54+25_39del15 - DOK7_000059 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat06 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 1i c.54+25_55+38del r.spl? p.? Parent #1 - pathogenic (recessive) g.3465181_3465271del - 54+25_39del15 - DOK7_000059 Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat07 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.54+32_54+33del r.(=) p.(=) Parent #1 - benign g.3465188_3465189del g.3463461_3463462del - - DOK7_000132 - - - rs71180187 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 1i c.55-2A>C r.55_65del p.Trp19Valfs*70 Parent #1 - pathogenic g.3465231A>C g.3463504A>C IVS1-2A>C - DOK7_000016 - PubMed: Selcen 2008 - - Germline - - - 0 - DNA SEQ - - CMS 18626973-Pat08 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - 1 Tom Winder
+/. 2 c.91C>A r.(?) p.(Pro31Thr) Parent #1 - pathogenic (recessive) g.3465269C>A g.3463542C>A - - DOK7_000060 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat08 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2 c.91C>A r.(?) p.Pro31Thr Unknown - NA g.3465269C>A g.3463542C>A - - DOK7_000060 expression cloning differentiated C2C12 cells, significantly reduced AChR clustering, reduced complexity PubMed: Cossins 2012 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.98C>T r.(?) p.(Ala33Val) Paternal (confirmed) - pathogenic g.3465276C>T g.3463549C>T 98G>A - DOK7_000025 variant probably reported on wrong strand PubMed: Muller 2007 - - Germline - - - 0 - DNA SEQ - - CMS 17439981-Fam10P12 see PubMed: Muller 2007 - F - Spain - - 0 - - 1 Johan den Dunnen
+/. 1 c.98C>T r.(?) p.(Ala33Val) Parent #1 - pathogenic g.3465276C>T g.3463549C>T - - DOK7_000025 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+/. 2 c.98C>T r.(?) p.Ala33Val Unknown - NA g.3465276C>T g.3463549C>T - - DOK7_000025 expression cloning, fails to induce MUSK (Tyr phosphorylation) PubMed: Hamuro 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i_3 c.101-124_141del r.spl? p.? Parent #1 - pathogenic (recessive) g.3475009_3475173del g.3473282_3473446del - - DOK7_000061 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat09 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 2i_3 c.101-124_141del r.spl? p.? Parent #1 - pathogenic (recessive) g.3475009_3475173del g.3473282_3473446del - - DOK7_000061 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat10 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.101-26G>A r.(=) p.(=) Parent #1 - benign g.3475107G>A g.3473380G>A - - DOK7_000133 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 2i_3 c.101-24_141del r.spl? p.? Parent #1 - pathogenic g.3475109_3475173del g.3473382_3473446del - - DOK7_000050 - PubMed: Jephson 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20554332-Pat4 PubMed: Jephson 2010 - - - - - - 0 - - 1 Johan den Dunnen
?/. 2i c.101-19A>G r.spl p.(=) Unknown - VUS g.3475114A>G g.3473387A>G - - DOK7_000057 - - - - Unknown - - - 0 - DNA SEQ - - CMS - - - M - Reunion - - 0 - - 1 Damien Sternberg
-/. - c.101-11G>A r.(=) p.(=) Unknown - benign g.3475122G>A g.3473395G>A - - DOK7_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.101-1G>C r.spl p.? Parent #1 - pathogenic g.3475132G>C g.3473405G>C IVS2-1G>T - DOK7_000008 - PubMed: Beeson 2006, OMIM:var0008 - - Germline - - - 0 - DNA SEQ - - CMS 16917026-Ind18 see also PubMed: Beeson 2006 - - - Spain - - 0 - - 1 Johan den Dunnen
+/. 2i c.101-1G>T r.spl p.? Paternal (inferred) - pathogenic g.3475132G>T g.3473405G>T IVS2-1G>T - DOK7_000029 exon trap cloning suggests ex3 skipping PubMed: Muller 2007 - - Germline - - - 0 - DNA SEQ - - CMS 17439981-Fam5P6 see PubMed: Muller 2007 - F - Spain - - 0 - - 1 Angela Abicht
+/. 3 c.101_331del r.(?) p.Asp34_Glu110del Unknown - NA g.3475133_3475363del g.3473406_3473636del - - DOK7_000000 pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression; failure to phosphorylate MUSK PubMed: Selcen 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.101_532del r.(?) p.Asp34_Trp178delinsGly Unknown - NA g.3475133_3478269del g.3473406_3476542del - - DOK7_000000 pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; failure to phosphorylate MUSK PubMed: Selcen 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3 c.101_772del r.(?) p.Asp34_Gly257del Unknown - NA g.3475133_3491523del g.3473406_3489796del - - DOK7_000000 pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; significantly reduced expression; failure to phosphorylate MUSK PubMed: Selcen 2008 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i_6i c.(100+1_101-1)_(772+1_773-1)del r.101_772del p.fs* Parent #1 - pathogenic g.(3465279_3475132)_(3491524_3494485)del - 101_652del - DOK7_000012 reported as 101_652del (corrected after contact with authors); absence exon 3-6 91% cDNA clones; not in 100 control cDNAs PubMed: Selcen 2008 - - Germline - - - 0 - RNA RT-PCR, SEQ - - CMS 18626973-Pat09 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - 1 Tom Winder
?/. - c.134C>T r.(?) p.(Ser45Leu) Parent #1 - VUS g.3475166C>T g.3473439C>T - - DOK7_000026 - - - rs62272670 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 3 c.134C>T r.(?) p.(Ser45Leu) Maternal (confirmed) - pathogenic g.3475166C>T g.3473439C>T 134C>T - DOK7_000026 - PubMed: Muller 2007 - - Germline - - - 0 - DNA SEQ - - CMS 17439981-Fam11P13 see PubMed: Muller 2007 - M - Portugal - - 0 - - 1 Angela Abicht
+/. 3 c.134C>T r.(?) p.(Ser45Leu) Paternal (confirmed) - pathogenic g.3475166C>T g.3473439C>T 134C>T - DOK7_000026 - PubMed: Muller 2007 - - Germline - - - 0 - DNA SEQ - - CMS 17439981-Fam12P14 see PubMed: Muller 2007 - F - - South America - 0 - - 1 Angela Abicht
+/. 3 c.134C>T r.(?) p.(Ser45Leu) Parent #1 - pathogenic g.3475166C>T g.3473439C>T - - DOK7_000026 - PubMed: Mihaylova 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20562457-Pat17 PubMed: Mihaylova 2010 - F - Portugal;Poland - - 0 - - 1 Johan den Dunnen
+/. 3 c.134C>T r.(?) p.(Ser45Leu) Parent #2 - pathogenic g.3475166C>T g.3473439C>T - - DOK7_000026 - PubMed: BenAmmar 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20012313-Pat12 PubMed: BenAmmar 2010 - F - France - >18y 0 - - 1 Johan den Dunnen
-?/. 3 c.134C>T r.(?) p.(Ser45Leu) Unknown - likely benign g.3475166C>T g.3473439C>T - - DOK7_000026 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pats PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.134C>T r.(?) p.(Ser45Leu) Unknown - benign g.3475166C>T - DOK7(NM_173660.4):c.134C>T (p.S45L) - DOK7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.160C>T r.(?) p.(Arg54Cys) Unknown - likely benign g.3475192C>T g.3473465C>T Arg54Tyr) - DOK7_000076 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pats PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.176_206delinsAG r.(?) p.(Leu59GlnfsTer24) Parent #1 - pathogenic (recessive) g.3475208_3475238delinsAG g.3473481_3473511delinsAG - - DOK7_000117 - PubMed: Jephson 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20554332-Pat4 PubMed: Jephson 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.176_206delinsAG r.(?) p.(Leu59GlnfsTer24) Parent #1 - pathogenic g.3475208_3475238delinsAG g.3473481_3473511delinsAG - - DOK7_000117 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat09 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.176_206delinsAG r.?) p.(Leu59GlnfsTer24) Parent #1 - pathogenic (recessive) g.3475208_3475238delinsAG g.3473481_3473511delinsAG - - DOK7_000117 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat10 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.190G>A r.(?) p.(Gly64Arg) Parent #1 - VUS g.3475222G>A g.3473495G>A - - DOK7_000053 PolyPhen-2: prob. dam. (PSIC:0,995), Mut.Taster: disease causing - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 3 c.190G>A r.(?) p.(Gly64Arg) Parent #1 - pathogenic g.3475222G>A g.3473495G>A - - DOK7_000053 - - - - Germline - - - 0 - DNA SEQ - - CMS - - - - - Germany - - 0 - - 1 Angela Abicht
+/. 3 c.190G>M r.(?) p.(Gly64Arg) Parent #1 - pathogenic g.3475222G>M g.3473495G>M 190G>A? - DOK7_000039 - PubMed: Mihaylova 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20562457-Pat18 PubMed: Mihaylova 2010 relative of 20562457-Pat19 F - Portugal Indian African - 0 - - 1 Johan den Dunnen
+/. 3 c.190G>M r.(?) p.(Gly64Arg) Parent #1 - pathogenic g.3475222G>M g.3473495G>M 190G>A? - DOK7_000039 - PubMed: Mihaylova 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20562457-Pat19 PubMed: Mihaylova 2010 relative of 20562457-Pat18 M - Portugal Indian African - 0 - - 1 Johan den Dunnen
-/. - c.220= r.(=) p.(Leu74=) Unknown - benign g.3475252T>C g.3473525= DOK7(NM_173660.4):c.220T>C (p.L74=) - DOK7_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.220C>T r.(?) p.(=) Unknown - benign g.3475252= g.3473525C>T - - DOK7_000078 - - - rs4325970 Unknown ? 0.99 controls - 0 - DNA SEQ-NG-I Umbilical cord - arthrogryposis - - Fetus, TOP 24th GW F no Germany - - 0 yes none 1 Florian Erger
-?/. 3 c.220C>T r.(?) p.(=) Unknown - likely benign g.3475252= g.3473525C>T L74L - DOK7_000078 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pats PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.230C>T r.(?) p.(Thr77Met) Parent #1 - pathogenic (recessive) g.3475262C>T g.3473535C>T - - DOK7_000062 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pat11 PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. 3 c.230C>T r.(?) p.Thr77Met Unknown - NA g.3475262C>T g.3473535C>T - - DOK7_000062 expression cloning differentiated C2C12 cells, non-significantly reduced AChR clustering (0.5), reduced complexity PubMed: Cossins 2012 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.245G>T r.(?) p.(Cys82Phe) Unknown - VUS g.3475277G>T g.3473550G>T - - DOK7_000036 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - F - United States - - 0 - - 1 Tom Winder
-?/. 3 c.282C>T r.(?) p.(=) Unknown - likely benign g.3475314C>T g.3473587C>T H49H - DOK7_000077 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pats PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. 3 c.296C>T r.(?) p.(Ala99Val) Unknown - likely benign g.3475328C>T g.3473601C>T - - DOK7_000079 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA SEQ - - CMS 22661499-Pats PubMed: Cossins 2012 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. - c.296C>T r.(?) p.(Ala99Val) Parent #1 - VUS g.3475328C>T g.3473601C>T - - DOK7_000079 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138010842 Germline - 1/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.308G>A r.(?) p.(Arg103Gln) Unknown - VUS g.3475340G>A g.3473613G>A - - DOK7_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.313C>T r.(?) p.(Arg105Cys) Unknown - VUS g.3475345C>T g.3473618C>T - - DOK7_000033 - - - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - - - Canada - - 0 - - 1 Tom Winder
+/. 3 c.325G>T r.(?) p.(Gly109Cys) Parent #1 - pathogenic g.3475357G>T g.3473630G>T - - DOK7_000051 - PubMed: Jephson 2010 - - Germline - - - 0 - DNA SEQ - - CMS 20554332-Pat5 PubMed: Jephson 2010 - - - - - - 0 - - 1 Johan den Dunnen
+/. 3 c.325G>T r.(?) p.(Gly109Cys) Parent #1 - pathogenic (recessive) g.3475357G>T g.3473630G>T - - DOK7_000051 - PubMed: Cossins 2012 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - CMS 22661499-Pat12 PubMed: Cossins 2012 - F no United Kingdom (Great Britain) - >8y 0 - - 1 Johan den Dunnen
+/. 3 c.325G>T r.(?) p.Gly109Cys Unknown - NA g.3475357G>T g.3473630G>T - - DOK7_000051 expression cloning differentiated C2C12 cells, significantly reduced AChR clustering (0.75), reduced complexity PubMed: Cossins 2012 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.331+1G>T r.[101_331del, 101_532del, 55_532del] p.[Asp34_Glu110del, fs*] Parent #1 - pathogenic g.3475364G>T g.3473637G>T IVS3+1G>T - DOK7_000018 unique exon 3 skip, not observed in 100 control cDNAs PubMed: Selcen 2008 - - Germline - - - 0 - RNA RT-PCR, SEQ - - CMS 18626973-Pat12 see also PubMed: Selcen 2008 - - - (United States) - - 0 - - 1 Tom Winder
+/. 3i c.331+1G>T r.spl p.? Parent #1 - pathogenic g.3475364G>T g.3473637G>T - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - DNA SEQ - - FADS 19261599-MPS012 PubMed: Vogt 2009 fetus1 family, 3 affecteds, parents and 2 healthy children heterozygous carriers - - India Bengal <0d 0 - - 3 Johan den Dunnen
+/. 3i c.331+1G>T r.spl p.? Parent #2 - pathogenic g.3475364G>T g.3473637G>T - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - DNA SEQ - - FADS 19261599-MPS012 PubMed: Vogt 2009 fetus1 family, 3 affecteds, parents and 2 healthy children heterozygous carriers - - India Bengal <0d 0 - - 3 Johan den Dunnen
+/. 3i c.331+1G>T r.spl p.? Parent #1 - pathogenic g.3475364G>T g.3473637G>T - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - DNA SEQ - - FADS 19261599-MPS012 PubMed: Vogt 2009 fetus2 family, 3 affecteds, parents and 2 healthy children heterozygous carriers - - India Bengal <0d 0 - - 1 Johan den Dunnen
+/. 3i c.331+1G>T r.spl p.? Parent #2 - pathogenic g.3475364G>T g.3473637G>T - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - DNA SEQ - - FADS 19261599-MPS012 PubMed: Vogt 2009 fetus2 family, 3 affecteds, parents and 2 healthy children heterozygous carriers - - India Bengal <0d 0 - - 1 Johan den Dunnen
+/. 3i c.331+1G>T r.spl p.? Parent #1 - pathogenic g.3475364G>T g.3473637G>T - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - DNA SEQ - - FADS 19261599-MPS012 PubMed: Vogt 2009 fetus3 family, 3 affecteds, parents and 2 healthy children heterozygous carriers - - India Bengal <0d 0 - - 1 Johan den Dunnen
+/. 3i c.331+1G>T r.spl p.? Parent #2 - pathogenic g.3475364G>T g.3473637G>T - - DOK7_000018 not in 378 control chromosomes PubMed: Vogt 2009 - - Germline - - - 0 - DNA SEQ - - FADS 19261599-MPS012 PubMed: Vogt 2009 fetus3 family, 3 affecteds, parents and 2 healthy children heterozygous carriers - - India Bengal <0d 0 - - 1 Johan den Dunnen
-/. - c.331+27G>A r.(=) p.(=) Parent #1 - benign g.3475390G>A g.3473663G>A - - DOK7_000136 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-112G>A r.(=) p.(=) Both (homozygous) - benign g.3477957G>A g.3476230G>A - - DOK7_000137 - - - rs34427903 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-82G>A r.(=) p.(=) Both (homozygous) - benign g.3477987G>A g.3476260G>A - - DOK7_000138 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-69A>G r.(=) p.(=) Parent #1 - benign g.3478000A>G g.3476273A>G - - DOK7_000139 - - - rs2857985 Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-56delinsAT r.(=) p.(=) Parent #1 - benign g.3478013delinsAT g.3476286delinsAT - - DOK7_000105 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-50T>C r.(=) p.(=) Parent #1 - benign g.3478019T>C g.3476292T>C - - DOK7_000106 - - - rs114112298 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-49C>T r.(=) p.(=) Parent #1 - benign g.3478020C>T g.3476293C>T - - DOK7_000107 c.332-121_65del - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-39T>C r.(=) p.(=) Parent #1 - benign g.3478030T>C g.3476303T>C - - DOK7_000108 - - - rs114948213 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.332-39T>C r.(=) p.(=) Parent #1 - benign g.3478030T>C g.3476303T>C - - DOK7_000108 - - - - Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
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